A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073009



Internal ID17818408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7574339..7575434hg38UCSC Ensembl
Innerchr17:7477657..7478752hg19UCSC Ensembl
Innerchr17:7418381..7419476hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960400
Supporting Variants
SamplesHGDP00927
Known GenesEIF4A1, SENP3-EIF4A1, SNORA48
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2073009
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer